RIC1
Chr 9ARRIC1 partner of RAB6A GEF complex
Also known as: CATIFA, CIP150, KIAA1432, bA207C16.1
The RIC1 protein forms a guanine nucleotide exchange factor complex that activates RAB6A to facilitate endosome-to-Golgi vesicle fusion and is required for procollagen transport, secretion, and craniofacial skeletal development. Biallelic mutations cause CATIFA syndrome, inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.398), indicating that complete loss of function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 94 | 0 | 94 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 3 | 76 | 5 | 1 | 85 |
Likely Benign | 0 | 6 | 0 | 5 | 11 |
Benign | 0 | 0 | 3 | 4 | 7 |
Conflicting | — | 1 | |||
| Total | 3 | 82 | 104 | 10 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RIC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools